Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2011;3(3):154-9.
doi: 10.4274/jcrpe.v3i3.30.

3M syndrome: a report of four cases in two families

Ayla Güven  1 , Ayşe Nurcan Cebeci
Affiliations
Case Reports

3M syndrome: a report of four cases in two families

Ayla Güven et al. J Clin Res Pediatr Endocrinol. 2011.

Abstract

3M syndrome is a rare entity characterized by severe growth retardation, dysmorphic features and skeletal changes as its major components. It is differentiated from other types of dwarfism by its clinical features and by the typical slender long bones and foreshortened vertebral bodies that can be visualized radiographically. 3M syndrome has an autosomal recessive mode of inheritance. An early diagnosis is important for genetic counseling. In this report, we present four children (3 males, 1 female) from two families who were aged between 4(11/12) and 10(11/12) years and had clinical findings of 3M syndrome. One of these patients had received growth hormone (GH) treatment which was discontinued due to an inadequate height gain. Physicians should be aware of this entity in the differential diagnosis of children with severe short stature and mild skeletal changes.

PubMed Disclaimer

Figures

Figures 1A
Figures 1A. Figure 1. Patients 1 (A), 2 (B), 3 (C) and 4 (D). The patients exhibited the physical findings of 3M syndrome: Dolichocephaly, high and broadforehead, upswept posterior hairline (in patients 1 and 2), downward slanting of the eyes, horizontal eyebrows, flat nasal bridge, narrowed and short nasal body, prominent fleshy nasal tip, straight clavicles, high and square shoulders, short, wide and flat thorax with a mild pectus excavatum
2A
2A. Figure 2. Exaggerated hyperlordosis as seen in Patients 1 (A) and 3(B)
Figure 5
Figure 5. Figure 5. Radiography of the lower extremity and lateral vertebrae in Patient 2
6
6. Figure 6. Prominent heels were present in all patients
Figure 7
Figure 7. Figure 7. Note the narrow pelvis, hypoplastic pubis and ilium, as well as the short femoral necks (Patient 3)
Figure 8
Figure 8. Figure 1. Patients 1 (A), 2 (B), 3 (C) and 4 (D). The patients exhibited the physical findings of 3M syndrome: Dolichocephaly, high and broadforehead, upswept posterior hairline (in patients 1 and 2), downward slanting of the eyes, horizontal eyebrows, flat nasal bridge, narrowed and short nasal body, prominent fleshy nasal tip, straight clavicles, high and square shoulders, short, wide and flat thorax with a mild pectus excavatum
See this image and copyright information in PMC

References

    1. Miller JD, McKusick VA, Malvaux P, Temtamy S, Salinas C. The 3-M syndrome: a heritable low birthweight dwarfism. Birth Defects Orig Artic Ser. 1975;11:39–47. - PubMed
    1. Hennekam RC, Bijlsma JB, Spranger J. Further delineation of the 3-M syndrome with review of the literature. Am J Med Genet. 1987;28:195–209. - PubMed
    1. Aglan MS, Ashour AM, Ramzy MI, Hosny LA, Mostafa MI. 3-M syndrome: a report of three Egyptian cases with review of the literature. Clin Dysmorphol. 2006;15:55–64. - PubMed
    1. Spranger J, Opitz JM, Nourmand A. A new familial intrauterine growth retardation syndrome. The 3-M syndrome. Eur J Pediatr. 1976;123:115–124. - PubMed
    1. Le Merrer M, Brauner R, Maroteaux P. Dwarfism with gloomy face: a new syndrome with features of 3-M syndrom. J. Med. Genet. 1991;28:186–191. - PMC - PubMed

Publication types

Supplementary concepts